4-165088507-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001100389.2(TMEM192):c.535G>C(p.Glu179Gln) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001100389.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM192 | ENST00000306480.11 | c.535G>C | p.Glu179Gln | missense_variant | Exon 4 of 6 | 1 | NM_001100389.2 | ENSP00000305069.4 | ||
TMEM192 | ENST00000506087.5 | c.523G>C | p.Glu175Gln | missense_variant | Exon 5 of 7 | 2 | ENSP00000425335.1 | |||
TMEM192 | ENST00000505095.1 | c.112G>C | p.Glu38Gln | missense_variant | Exon 5 of 6 | 3 | ENSP00000424590.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.535G>C (p.E179Q) alteration is located in exon 4 (coding exon 4) of the TMEM192 gene. This alteration results from a G to C substitution at nucleotide position 535, causing the glutamic acid (E) at amino acid position 179 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.